2021 Fiscal Year Final Research Report
Comparison of GLA variants of unknown significance and the specific mutations causing moderate Fabry disease
| Project/Area Number |
18K15071
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 49010:Pathological biochemistry-related
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| Research Institution | Meiji Pharmaceutical University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2022-03-31
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| Keywords | ライソゾーム病 / 遺伝子変異 / 臨床表現型 |
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| Outline of Final Research Achievements |
Fabry disease is caused by mutation of GLA gene, leading to deficiency of α-galactosidase A activity. In this study, we compared functional polymorphisms with mutations leading to later-onset Fabry disease. The stability of GLA proteins of functional polymorphism was more stable than those of mutation with later-onset at neutral pH condition.
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| Free Research Field |
生化学
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| Academic Significance and Societal Importance of the Research Achievements |
ファブリー病の診断において、新しいGLA遺伝子変異が見つかった場合、それが病気を引き起こす遺伝子変異であるか否かの判断が難しいことがあり、臨床現場で問題となっています。今回の研究成果は、ファブリー病のメカニズムの一部を明らかにしたとともに、新しい遺伝子変異が見つかった場合に病気を引き起こす遺伝子変異であるか判断するための有益な参考情報になると考えられます。
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